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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86SG6: Variant p.Arg45Trp

Serine/threonine-protein kinase Nek8
Gene: NEK8
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Variant information Variant position: help 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Tryptophan (W) at position 45 (R45W, p.Arg45Trp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In PKD8; pathogenic; fails to rescue defective PKD2 targeting to cilia in NEK8-deficient epithelial renal cells; decreased autophosphorylation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 692 The length of the canonical sequence.
Location on the sequence: help ADQKLVIIKQIPVEQMTKEE R QAAQNECQVLKLLNHPNVIE The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIE

Mouse                         ADQKLVILKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIE

Rat                           ADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIE

Zebrafish                     TDSALVILKEIPVEQMTRDERLAAQNECQVLKLLSHPNIIE
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 692 Serine/threonine-protein kinase Nek8
Domain 4 – 258 Protein kinase
Binding site 33 – 33



Literature citations
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus L.R.; Chen C.; Stallworth J.; Turner J.L.; Slaats G.G.; Hawks A.L.; Mabillard H.; Senum S.R.; Srikanth S.; Flanagan-Steet H.; Louie R.J.; Silver J.; Lerner-Ellis J.; Morel C.; Mighton C.; Sleutels F.; van Slegtenhorst M.; van Ham T.; Brooks A.S.; Dorresteijn E.M.; Barakat T.S.; Dahan K.; Demoulin N.; Goffin E.J.; Olinger E.; Larsen M.; Hertz J.M.; Lilien M.R.; Obeidova L.; Seeman T.; Stone H.K.; Kerecuk L.; Gurgu M.; Yousef Yengej F.A.; Ammerlaan C.M.E.; Rookmaaker M.B.; Hanna C.; Rogers R.C.; Duran K.; Peters E.; Sayer J.A.; van Haaften G.; Harris P.C.; Ling K.; Mason J.M.; van Eerde A.M.; Steet R.;
Kidney Int. 104:995-1007(2023)
Cited for: VARIANTS PKD8 TRP-45; MET-150 AND GLN-157; CHARACTERIZATION OF VARIANTS PKD8 TRP-45; MET-150 AND GLN-157; INVOLVEMENT IN PKD8; FUNCTION;
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?
Mehawej C.; Chouery E.; Ghabril R.; Tokajian S.; Megarbane A.;
Nephron 147:229-233(2023)
Cited for: VARIANT PKD8 TRP-45; INVOLVEMENT IN PKD8;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.